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multiple sclerosis, susceptibility to, 5
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene.
Uniprot Description A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease.
Mondo Term and Equivalent IDs
MONDO:0013893: multiple sclerosis, susceptibility to, 5
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614810
MONDO:0013893
High level summary of knowledge for a disease, including descriptions and datasource references.